Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040771 | SCV000064462 | uncertain significance | not specified | 2012-09-21 | criteria provided, single submitter | clinical testing | The Ser27710Arg variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the S er27710Arg variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of the Ser27710Arg variant. |
Fulgent Genetics, |
RCV000765546 | SCV000896861 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798196 | SCV002043053 | uncertain significance | Cardiomyopathy | 2021-04-09 | criteria provided, single submitter | clinical testing |